Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999774993261856 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:18395988C>TN/A show variant in all transcripts   IGV
HGNC symbol DZANK1
Ensembl transcript ID ENST00000377630
Genbank transcript ID N/A
UniProt peptide Q9NVP4
alteration type single base exchange
alteration region CDS
DNA changes c.541G>A
cDNA.1046G>A
g.51842G>A
AA changes G181S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 181
frameshift no
known variant Reference ID: rs6035037
databasehomozygous (T/T)heterozygousallele carriers
1000G1898731062
ExAC51152253727652
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4891
1.6580.999
(flanking)-0.1320.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51843wt: 0.5329 / mu: 0.5578 (marginal change - not scored)wt: CTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTGG
mu: CTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTGG		 gcgg|CTGG
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      181GRWNLWEASFCGWCGAMLGIPAGC
mutated  not conserved    181SWCGAMLGIPAG
Ptroglodytes  all identical  ENSPTRG00000013285  354GRWNLWEASFCGWCGAML
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000006598  268GRRNRPEACFCDWCGATPGI
Mmusculus  not conserved  ENSMUSG00000037259  374GCQNLWEASFCDWCGA
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012074  350KWLNHHKSRFCSCCGSEPVCAAT
Drerio  not conserved  ENSDARG00000055787  353NRVNHSDARFCDWCGAKPGHKAS
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000013794  370GRVNHSDARFCDWCGAKPSSPIS
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1758 / 1758
position (AA) of stopcodon in wt / mu AA sequence 586 / 586
position of stopcodon in wt / mu cDNA 2263 / 2263
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 506 / 506
chromosome 20
strand -1
last intron/exon boundary 2098
theoretical NMD boundary in CDS 1542
length of CDS 1758
coding sequence (CDS) position 541
cDNA position
(for ins/del: last normal base / first normal base)		 1046
gDNA position
(for ins/del: last normal base / first normal base)		 51842
chromosomal position
(for ins/del: last normal base / first normal base)		 18395988
original gDNA sequence snippet TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGGTG
altered gDNA sequence snippet TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGGTG
original cDNA sequence snippet TCTGGGAGGCGTCCTTCTGCGGCTGGTGTGGAGCCATGCTC
altered cDNA sequence snippet TCTGGGAGGCGTCCTTCTGCAGCTGGTGTGGAGCCATGCTC
wildtype AA sequence MLTLESFQSP GFAHVSGQKC LTSTEIMRIQ RETDFLKCAH CLAPRPSDPF ARFCQECGSP
VPPIFGCRLP PPEGAQMGLC AECRSLVPMN TPICVVCEAP LALQLQPQAS LHLKEKVICR
ACGTGNPAHL RYCVTCEGAL PSSQESMCSG DKAPPPPTQK GGTISCYRCG RWNLWEASFC
GWCGAMLGIP AGCSVCPKCG ASNHLSARFC GSCGICVKSL VKLSLDRSLA LAAEEPRPFS
EPRCAWQSLN IPLPRSDVGT KRDIGTQTVG LFYPSGKLLA KKEQELASQK QRQEKMSDHK
PLLTAISPGR GYWRRQLDHI SAHLRCYAQN NPEFRALIAE PRMGKLISAT VHEDGCEVSI
RLNYSQVSNK NLYLNKAVNF SDHLLSSAAE GDGGLCGSRS SWVSDYSQST SDTIEKIKRI
KNFKTKTFQE KKEQLIPENR LLLKEVGPTG EGRVSVIEQL LDEGADPNCC DEDNRPVITV
AVMNKHHEAI PVLVQRGADI DQQWGPLRNT ALHEATLLGL AGRESTATLL GCNASIQKKN
AGGQTAYDLA LNTGDDLVTS LFAAKFGQGL EDQLAQTRSL SLDDC*
mutated AA sequence MLTLESFQSP GFAHVSGQKC LTSTEIMRIQ RETDFLKCAH CLAPRPSDPF ARFCQECGSP
VPPIFGCRLP PPEGAQMGLC AECRSLVPMN TPICVVCEAP LALQLQPQAS LHLKEKVICR
ACGTGNPAHL RYCVTCEGAL PSSQESMCSG DKAPPPPTQK GGTISCYRCG RWNLWEASFC
SWCGAMLGIP AGCSVCPKCG ASNHLSARFC GSCGICVKSL VKLSLDRSLA LAAEEPRPFS
EPRCAWQSLN IPLPRSDVGT KRDIGTQTVG LFYPSGKLLA KKEQELASQK QRQEKMSDHK
PLLTAISPGR GYWRRQLDHI SAHLRCYAQN NPEFRALIAE PRMGKLISAT VHEDGCEVSI
RLNYSQVSNK NLYLNKAVNF SDHLLSSAAE GDGGLCGSRS SWVSDYSQST SDTIEKIKRI
KNFKTKTFQE KKEQLIPENR LLLKEVGPTG EGRVSVIEQL LDEGADPNCC DEDNRPVITV
AVMNKHHEAI PVLVQRGADI DQQWGPLRNT ALHEATLLGL AGRESTATLL GCNASIQKKN
AGGQTAYDLA LNTGDDLVTS LFAAKFGQGL EDQLAQTRSL SLDDC*
speed 0.35 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project